|
1
|
(HPO:0000311)
|
Round face |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0001063)
|
Acrocyanosis |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
12
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
13
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
14
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
15
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
16
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
17
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
18
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
19
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
21
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
22
|
(HPO:0001265)
|
Hyporeflexia |
rare [HPO:skoehler]
|
|
|
|
208 / 7739
|
|
23
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
24
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
25
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
26
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
27
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
28
|
(OMIM)
|
Dorsally rotated ears |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Downslanting eyebrows |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Long nasal bridge |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Skin folds or creases |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Acute, recurrent episodes of brachial plexus (lumbosacral and phrenic nerve in some cases) neuropathy |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Muscle weakness usually following neuropathy |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Muscle atrophy usually following neuropathy |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Sensory deficits (in some patients) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Focal paresis |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Axonal degeneration |
|
|
|
|
7 / 7739
|
|
38
|
(OMIM)
|
EMG of affected limb shows denervation |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0040078)
|
Axonal degeneration |
|
|
|
|
10 / 7739
|
|
42
|
(HPO:0045054)
|
Brachial plexus neuropathy |
|
|
|
|
1 / 7739
|